15-74854040-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005697.5(SCAMP2):c.206C>G(p.Pro69Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000157 in 1,614,108 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005697.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCAMP2 | NM_005697.5 | c.206C>G | p.Pro69Arg | missense_variant | Exon 3 of 9 | ENST00000268099.13 | NP_005688.2 | |
SCAMP2 | NM_001320778.2 | c.206C>G | p.Pro69Arg | missense_variant | Exon 3 of 10 | NP_001307707.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152244Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000437 AC: 11AN: 251430Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135886
GnomAD4 exome AF: 0.000165 AC: 241AN: 1461746Hom.: 0 Cov.: 31 AF XY: 0.000147 AC XY: 107AN XY: 727184
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152362Hom.: 0 Cov.: 33 AF XY: 0.0000805 AC XY: 6AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.206C>G (p.P69R) alteration is located in exon 3 (coding exon 3) of the SCAMP2 gene. This alteration results from a C to G substitution at nucleotide position 206, causing the proline (P) at amino acid position 69 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at